A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010248



Internal ID7074313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38223718..38230608hg38UCSC Ensembl
Outerchr7:38263319..38270209hg19UCSC Ensembl
Outerchr7:38229844..38236734hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386891
hg196891
hg186891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563526
SamplesHuRef
Known GenesSTARD3NL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010248
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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